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Inflammatory demyelination in a patient with CMT1A |
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| Authors: | Vital Anne Vital Claude Lagueny Alain Ferrer Xavier Ribière-Bachelier Catherine Latour Philippe Petry Klaus G |
| Institution: | Department of Neuropathology, BP42, Victor Segalen University, 146 rue Léo-Saignat, 33076 Bordeaux, France. anne.vital@neuropath.u-bordeaux2.fr |
| Abstract: | We report a case of Charcot-Marie-Tooth disease (CMT), with identified PMP22 gene duplication (CMT type 1A), and with evidence of an inflammatory demyelinating process superimposed on the course of the chronic genetic disease. Macrophage-associated demyelination was observed on the peripheral nerve biopsy. This observation supports some experimental data from the literature and shows that there may be a genetic susceptibility to inflammatory demyelinating processes in certain CMT kindreds. |
| Keywords: | Charcot‐Marie‐Tooth disease chronic inflammatory demyelinating polyneuropathy myelin PMP22 protein |
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